Anatomy

Internal medicine

Pathology

Muscle weakness

Congenital myopathy

Sarcoplasm

Myopathy

Biopsy

Nemaline myopathy

Muscle biopsy

Calcium

Medicine

Neuropathology

A sporadic case of congenital myopathy had severe muscle weakness of neonatal onset. Nemaline and cytoplasmic bodies were detected in muscle biopsies taken at 4 months of age. These findings were consistent with a diagnosis of nemaline myopathy (severe neonatal form). The simultaneous and abundant presence of these two types of sarcoplasmic inclusion has been found in only a few cases. However, these cases suggest that the sarcoplasmic inclusions may be formed, at least partially, by common mechanisms.

Co‐existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy